|
Bare lymphocyte syndrome 2
|
0.720 |
Biomarker
|
disease |
BEFREE |
Deficiencies in four proteins that regulate MHC II genes in humans (RFX-B, RFX5, RFXAP, and CIITA) cause an inherited immunodeficiency disorder known as the bare lymphocyte syndrome (BLS).
|
15655668 |
2005 |
|
Bare lymphocyte syndrome 2
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Three novel mutations of the CIITA gene in MHC class II-deficient patients with a severe immunodeficiency.
|
11862382 |
2002 |
|
Bare lymphocyte syndrome 2
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Mutation in the class II trans-activator leading to a mild immunodeficiency.
|
11466404 |
2001 |
|
Bare lymphocyte syndrome 2
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Absence of MHC class II gene expression in a patient with a single amino acid substitution in the class II transactivator protein CIITA.
|
10501838 |
1999 |
|
Bare lymphocyte syndrome 2
|
0.720 |
Biomarker
|
disease |
BEFREE |
Correction of defective expression in MHC class II deficiency (bare lymphocyte syndrome) cells by retroviral transduction of CIITA.
|
9233601 |
1997 |
|
Bare lymphocyte syndrome 2
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Activation of class II MHC genes requires both the X box region and the class II transactivator (CIITA).
|
7749984 |
1995 |
|
Bare lymphocyte syndrome 2
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome).
|
8402893 |
1993 |
|
Bare lymphocyte syndrome 2
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome).
|
8402893 |
1993 |
|
Bare lymphocyte syndrome 2
|
0.720 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Bare lymphocyte syndrome 2
|
0.720 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
|
Rheumatoid Arthritis
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
The differential MHC-II expression in B6Q.C2ta, however, did not alter the disease development in models of rheumatoid arthritis (collagen-induced arthritis and human glucose-6-phosphate-isomerase<sub>325-339</sub> -peptide-induced arthritis), or multiple sclerosis (MOG<sub>1-125</sub> protein-induced and MOG<sub>79-96</sub> peptide-induced experimental autoimmune encephalomyelitis).
|
27861821 |
2017 |
|
Rheumatoid Arthritis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This meta-analysis demonstrated that the MHC2TA -168 A/G polymorphism is not associated with susceptibility to RA in Caucasians.
|
26439834 |
2016 |
|
Rheumatoid Arthritis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We found no evidence of an association between the MHC2TA -168G/A and +1614G/C or FCRL3 -169T/C polymorphisms and RA in this Mexican population.
|
26350270 |
2016 |
|
Rheumatoid Arthritis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A variant of the CIITA gene has been found to associate with inflammatory diseases.We wanted to explore whether the risk variant rs3087456 in the CIITA gene interacts with the HLA-DRB1 SE alleles regarding the risk of developing RA.
|
22461888 |
2012 |
|
Rheumatoid Arthritis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A CIITA promoter single-nucleotide polymorphism (SNP), rs3087456 (-168 A/G), has indeed been associated with several autoimmune diseases, including rheumatoid arthritis (RA).
|
22513452 |
2012 |
|
Rheumatoid Arthritis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The major histocompatibility complex class II transactivator (CIITA) gene (16p13) has been reported to associate with susceptibility to multiple sclerosis, rheumatoid arthritis and myocardial infarction, recently also to celiac disease at genome-wide level.
|
23052709 |
2012 |
|
Rheumatoid Arthritis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The effect of the MHC2TA rs3087456G/rs4774C haplotype on RA susceptibility was confirmed, and the haplotype was found to be in negative linkage disequilibrium with the CLEC16A rs2903692A/rs6498169A haplotype.
|
19221398 |
2010 |
|
Rheumatoid Arthritis
|
0.500 |
Biomarker
|
disease |
BEFREE |
These SNP have been reported as important for RA (eotaxin-3 and MHC2TA) or for other immune-mediated diseases (CFH and CD209).
|
19567623 |
2009 |
|
Rheumatoid Arthritis
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
The MHC2TA -168A/G polymorphism and risk for rheumatoid arthritis: a meta-analysis of 6861 patients and 9270 controls reveals no evidence for association.
|
17875550 |
2008 |
|
Rheumatoid Arthritis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our results indicate that the MHC2TA -168A/G polymorphism (rs3087456) is not associated with RA yet underscore the importance of including shared epitope allele carrier status, secondary phenotypes and more complete characterisation of MHC2TA variation in future studies.
|
17875550 |
2008 |
|
Rheumatoid Arthritis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We did not confirm the previously reported association of this MHC2TA polymorphism with RA in our UK population despite its ethnic similarities with the Swedish population in which it was first described.
|
16920747 |
2007 |
|
Rheumatoid Arthritis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A promoter polymorphism (-168A/G, rs3087456) in the MHC2TA gene was associated with increased susceptibility to rheumatoid arthritis, multiple sclerosis and myocardial infarction in a northern European population.
|
17012290 |
2007 |
|
Rheumatoid Arthritis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In this cohort of Austrian patients, no association between the MHC2TA polymorphism and RA was found.
|
16776848 |
2006 |
|
Rheumatoid Arthritis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We analysed whether the single nucleotide polymorphism (SNP) rs3087456 in the promoter of the MHC class II transactivator (MHC2TA) gene is associated with manifestation of rheumatoid arthritis, multiple sclerosis, narcolepsy and Wegener granulomatosis.
|
16426246 |
2006 |
|
Rheumatoid Arthritis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
An association was detected between RA and both the FCRL3 -169C allele (OR 1.19, P = 0.023) and the homozygous genotype (OR 1.41, P = 0.027), but association of the MHC2TA promoter region variant (-168G) with RA was not replicated.
|
17133579 |
2006 |